Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGACAGGGACAGGGAGAGGGAGAGGGAGAGGA GAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGG GAGAGGGGAGAGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGA GGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGA CAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAGG GAGAGGGAGAGAGAGGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0101 a0001c0006t0001g0101	1	256	0.0039	442	c.22 others(453): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGACAGGGACAGGGAGA GGGAGAGGGAGAGGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGG ACAGGGAGAGGGAGGGAGAGGGGAGAGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAG AGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGG GAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATG GGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGG AGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGGAAAGGGAGTGAGAGAGA GAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTCGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0128 a0002c0128	a0002c0128t0001 a0002c0128t0001	a0002c0128t0001g0242 a0002c0128t0001g0242	1	256	0.0039	442	c.22 others(453): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTCGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAAGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0037 a0002c0037	a0002c0037t0001 a0002c0037t0001	a0002c0037t0001g0205 a0002c0037t0001g0205	1	256	0.0039	442	c.22 others(453): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGA GAAGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGACAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0059 a0002c0007t0001g0059	1	256	0.0039	442	c.22 others(453): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGACAGGGAGAGGGGGAGG GAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
STAB2_chr12_103582273_103771719	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00558.hp2 others(49): Show HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG02027.hp1 HG02027.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp1 HG02602.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 NA18939.hp2 NA18944.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18982.hp2 NA18989.hp1 NA19000.hp2 NA19007.hp2 NA19012.hp1 NA19068.hp2 NA19085.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp2	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0008 a0012 a0020 a0028 a0038 a0046	a0001c0003 a0001c0004 a0001c0006 others(34): Show a0001c0003 a0001c0004 a0001c0006 a0001c0033 a0001c0082 a0001c0085 a0001c0087 a0002c0005 a0002c0007 a0002c0008 a0002c0009 a0002c0011 a0002c0017 a0002c0034 a0002c0037 a0002c0045 a0002c0065 a0002c0079 a0002c0092 a0002c0094 a0002c0105 a0002c0114 a0002c0120 a0005c0027 a0005c0029 a0005c0056 a0005c0062 a0007c0010 a0007c0077 a0007c0110 a0008c0022 a0012c0078 a0012c0119 a0020c0054 a0028c0137 a0038c0111 a0046c0091	a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 others(35): Show a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0006t0001 a0001c0033t0001 a0001c0082t0001 a0001c0085t0001 a0001c0087t0001 a0002c0005t0001 a0002c0007t0001 a0002c0008t0001 a0002c0009t0001 a0002c0011t0001 a0002c0017t0001 a0002c0034t0001 a0002c0037t0001 a0002c0045t0001 a0002c0065t0001 a0002c0079t0001 a0002c0092t0001 a0002c0094t0001 a0002c0105t0001 a0002c0114t0001 a0002c0120t0001 a0005c0027t0001 a0005c0029t0001 a0005c0056t0001 a0005c0062t0001 a0007c0010t0001 a0007c0077t0001 a0007c0110t0001 a0008c0022t0001 a0012c0078t0001 a0012c0119t0001 a0020c0054t0001 a0028c0137t0001 a0038c0111t0001 a0046c0091t0001	a0001c0003t0001g0109 a0001c0003t0008g0163 a0001c0004t0001g0243 others(48): Show a0001c0003t0001g0109 a0001c0003t0008g0163 a0001c0004t0001g0243 a0001c0006t0001g0042 a0001c0033t0001g0153 a0001c0082t0001g0117 a0001c0085t0001g0081 a0001c0087t0001g0061 a0002c0005t0001g0179 a0002c0005t0001g0191 a0002c0005t0001g0235 a0002c0005t0001g0241 a0002c0007t0001g0226 a0002c0008t0001g0111 a0002c0008t0001g0220 a0002c0008t0001g0234 a0002c0009t0001g0110 a0002c0009t0001g0112 a0002c0009t0001g0131 a0002c0009t0001g0192 a0002c0011t0001g0207 a0002c0017t0001g0085 a0002c0017t0001g0225 a0002c0034t0001g0185 a0002c0034t0001g0187 a0002c0037t0001g0161 a0002c0045t0001g0150 a0002c0065t0001g0119 a0002c0079t0001g0233 a0002c0092t0001g0199 a0002c0094t0001g0198 a0002c0105t0001g0211 a0002c0114t0001g0209 a0002c0120t0001g0213 a0005c0027t0001g0063 a0005c0029t0001g0003 a0005c0056t0001g0193 a0005c0062t0001g0142 a0007c0010t0001g0071 a0007c0010t0001g0090 a0007c0010t0001g0223 a0007c0010t0001g0224 a0007c0077t0001g0019 a0007c0110t0001g0152 a0008c0022t0001g0251 a0012c0078t0001g0154 a0012c0119t0001g0116 a0020c0054t0001g0088 a0028c0137t0001g0053 a0038c0111t0001g0060 a0046c0091t0001g0156	52	256	0.2031	442	c.22 others(453): Show c.2262_*2263insGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAG AGGGAGAGGGAGAGAGAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGAC AGGGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGG GAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGA GAGGGACAGGGAGAGGGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGA GAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAG GGAGAGAGATGGGGGAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGAT GGGGGAGGGAGAGGGACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGG GAGAGGGGGAGAGAGGGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGA GAGGGAGA	STAB2	ENSG00000136011.15	transcript	ENST00000388887.7	protein_coding		1880		chr12	TogoVar
STOML3_chr13_38960925_38995831	38988444	T T	TGATATTT others(435): Show TGATATTTTATATCATATATTTTATATATAATATGTTATATTTTATATCA TATATTTTATATATTATATTTTACATCATATATTTTATATAAAATATATT ATATTTTATATCATATATTTTATATCATATATTTTATATATAATATATTT TATATCATATATTTTATATAGAATATATTTTATATCATATATTTTATATA TAATATATTTTATATCATATATTTTATATAGAATATATTTTATATCATAT ATTTTATATATAATATATTTTATATCATATATTTTATATATAATATATTT TATATCATATATTTTATATATAATATATTTTATATCATATATTTTATATA TAATATATTTTATATCATATATTTTATATAGAATATATTTTATATCATAT ATTTTATATATAATATATTTTATATCATATATTTTATATAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp2 NA18522.hp2 HG02451.hp2 HG02647.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	3	396	0.0076	442	c.52+ others(457): Show c.52+2225_52+2226insTTCTATATAAAATATATGATATAAAATATA TTATATATAAAATATATGATATAAAATATATTCTATATAAAATATATGAT ATAAAATATATTATATATAAAATATATGATATAAAATATATTATATATAA AATATATGATATAAAATATATTATATATAAAATATATGATATAAAATATA TTATATATAAAATATATGATATAAAATATATTCTATATAAAATATATGAT ATAAAATATATTATATATAAAATATATGATATAAAATATATTCTATATAA AATATATGATATAAAATATATTATATATAAAATATATGATATAAAATATA TGATATAAAATATAATATATTTTATATAAAATATATGATGTAAAATATAA TATATAAAATATATGATATAAAATATAACATATTATATATAAAATATATG ATATAAAATATC	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(435): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAG GGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGG AGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGG GGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGG GGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(28): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01975.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02735.hp2 HG03017.hp1 HG03209.hp1 HG03453.hp2 HG03942.hp1 HG06807.hp1 NA19009.hp1 NA19079.hp2 NA19087.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0034 a0001c0001t0046 a0001c0001t0110 a0001c0001t0117 a0001c0002t0002 a0001c0002t0011 a0001c0002t0013 a0001c0002t0016 a0001c0002t0017 a0001c0002t0035 a0001c0002t0053 a0001c0003t0006 a0001c0003t0022 a0001c0003t0028 a0001c0003t0042 a0001c0003t0043 a0001c0003t0044 a0001c0003t0074 a0001c0003t0077 a0001c0003t0092 a0001c0003t0097 a0001c0004t0014	a0001c0001t0001g0114 a0001c0001t0003g0123 a0001c0001t0003g0124 others(28): Show a0001c0001t0001g0114 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0004g0141 a0001c0001t0034g0089 a0001c0001t0034g0090 a0001c0001t0046g0140 a0001c0001t0110g0091 a0001c0001t0117g0088 a0001c0002t0002g0100 a0001c0002t0002g0182 a0001c0002t0011g0130 a0001c0002t0013g0105 a0001c0002t0013g0231 a0001c0002t0016g0128 a0001c0002t0017g0086 a0001c0002t0035g0185 a0001c0002t0053g0142 a0001c0003t0006g0109 a0001c0003t0022g0110 a0001c0003t0028g0092 a0001c0003t0042g0138 a0001c0003t0043g0186 a0001c0003t0044g0103 a0001c0003t0074g0137 a0001c0003t0077g0104 a0001c0003t0092g0107 a0001c0003t0097g0119 a0001c0004t0014g0189 a0001c0004t0014g0190	31	276	0.1123	442	c.-18 others(461): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCT CTCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCC CCCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCT CCCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCC CTCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCT CCCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCC CCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(435): Show GGAGGGGGAGAGAGAGGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAG AAGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGA GGGGGGAGAGAGGGGGAGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGG GGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGA GGGAGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGGGG GGAGAGAGAGGGGGAGGGAGGGAGGGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0219 a0001c0002t0013g0219	1	276	0.0036	442	c.-18 others(461): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTC TCTCCCCCCTCCCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCC CCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCCC CCTCTCTCTCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCCTC CCTCCCCCTCTCCCCCCTCTCTCCCCCCTCCCTCCCCCTCTCTCCCCCCC TCCCCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTC CCTCTCCGCCTCCCCTTCTCTCTCTCCCTCCCCACTCTCTCCCCCTCCCC CCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TCF3_chr19_1604292_1657615	1628084	C C	CAGGGGAT others(435): Show CAGGGGATGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGG CGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGG GGCAGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0091 a0001c0007t0091	a0001c0007t0091g0300 a0001c0007t0091g0300	1	352	0.0028	442	c.299 others(457): Show c.299-659_299-658insTGTGAGCTCTGCTGTCCCCTTCCCGCCTCA CCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTG TCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCC GCCTCATCCCCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(435): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAGCGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCATGGGG ATGGGGAGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG GGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTGGGAAGG GGACAGCAGAGCTCACAGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAT GGGGATGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTC ACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0098 a0001c0003t0008g0098	1	352	0.0028	442	c.299 others(459): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCTG TGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCC CTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTC CCCTTCCCTCCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCATC CCCTGTGAGCTCTGCTGTCCGCTTCCCACCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(435): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGA CAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGG GGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGG GGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCT CATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0092 a0002c0001t0092	a0002c0001t0092g0295 a0002c0001t0092g0295	1	352	0.0028	442	c.299 others(459): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTT CCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTCC CCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCC CCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATC CCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629112	A A	AGGTGGGA others(435): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCGGGAAGGG GACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGGTGGGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCT CATGGGGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGG	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0060 a0002c0001t0007g0060	1	352	0.0028	442	c.299 others(459): Show c.299-1687_299-1686insCCACCCGTGAGCTCTGCTGTCCCCTTCC CACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTG AGCTCTGCTGTCCCCTTCCCGCCCCACCCCCATGAGCTCTGCTGTCCCCT TCCCGCTCCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCC GTGAGCTCTGCTGTCCCCTTCCCGCCCCACCCTCTGTGAGCTCTACTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGT CCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATC CCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(435): Show GACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCTGGGACCCCTGTCCCCA CACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCTCACACCCCTGTCCCCACACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0057 a0001c0012t0001g0057	1	388	0.0026	442	c.26 others(453): Show c.2653_*2654insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGAGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGG ACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGG GTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGG TGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGG ACAGGGGTGTGGGGACAGGGGTCCCAGGGACAGGGGTGTGGGGACAGGGG TCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGG ACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TMEM120B_chr12_121707752_121787068	121747596	G G	GGGGTAGA others(435): Show GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGAGGCTGGGGTAGAAG GTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG GTCTGGGGTAGAAGGCGGGAGGCTGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGTGGAGGCTGGGGTAGAAGGTGGGAGGCACT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0033 a0001c0001t0006g0033	1	314	0.0032	442	c.189 others(457): Show c.189-700_189-699insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GCGGGAGGCTGGGGTAGAAGGTGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGGTCTGGGGTAG AAGGCGGGAGGCTGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGTGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGTAGAAGGCGGGAGGC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747979	G G	GCTGGGGT others(435): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0161 a0002c0002t0010g0161	1	314	0.0032	442	c.189 others(457): Show c.189-334_189-333insCGGGAGTCTGGGGTAGAAGGCGGGAGTCTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM242_chr6_157284025_157328519	157310941	T T	TGTCCCAG others(435): Show TGTCCCAGTATGCGCTAACCTAGCCTCATCATAGTGTGCCAGTGTGCACT CACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTCATCAT AGTGCCCCAGTGTGCACTCACCTGGCCTAATCATAGTGTCCCAGTGAGCA CTCACCTGGCCTAATCATAGTGTCCCAGTGTCCGCTTACCTAGCCTCATC ATAGTGGCCCAGTATCCGATCACCTAGATTCATCATAGTGCCCCAGTGTG TGCTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCTCACCTAGCCTCA TCATAGTGTCCCAGTGTACACACACCTGGCCTCATCATGGTGTCCCAGTG TGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTGCACTCACCCGGCCT CATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATCATAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	344	0.0029	442	c.327 others(459): Show c.327+7840_327+7841insCCTATGATGAGGCCGGGTGAGTGCACAC TGGGACCCTATGATGAGGCCGGGTGAGTGCACACTGGGGCACTCTGATGA GGCTAGGTGAGCGCACACTGGGACACCATGATGAGGCCAGGTGTGTGTAC ACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGGCACTGTGAT GAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGATCGG ATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACACTATG ATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCCAGGTGAGT GCACACTGGGGCACTATGATGAGGCCAGGTGAGTGCACACTGGGGCACTA TGATGAGGCTAGGTGAGTGCACACTGGCACACTATGATGAGGCTAGGTTA GCGCATACTGGGAC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313071	C C	CCCGTGTG others(435): Show CCCGTGTGCGCTGAGCTAGCCTCATCATAGTGCCCCAGTGTACACTCATC TAGCCTTATCATAGTTTCCCAGTGTGCACTCACCTAGCCTCAACATAGTG CCCCAGTGTGCGTTGAACTGGCCTCATTATAGTGCCCCAGTGTGCAATCA CCTAGCCTCATCATAATGTCCCAGTGTGCACTCACCTGCCCTCATCATAG TACCGCAGTATCCACTCACCTAGCCTCATCATAGTGTCCCAGATTGCACT CAACTGGCCTCATCATAGTGCCCCAGTGTGCGCTCACCTAGCCACATCAT AGTGTCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGCCGCAGTGTGCA CTCACCTAGCCTCATCATAATGTCCCAGTGTGCGCTCACCTAGCCTCATC TTAGTGTCCCAGTGTGCACTCACCTAGCCTCATCATAGTGTCA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	344	0.0029	442	c.327 others(459): Show c.327+5710_327+5711insTGACACTATGATGAGGCTAGGTGAGTGC ACACTGGGACACTAAGATGAGGCTAGGTGAGCGCACACTGGGACATTATG ATGAGGCTAGGTGAGTGCACACTGCGGCACTATGATGAGGCCAGGTGAGC GCACACTGGGACACTATGATGTGGCTAGGTGAGCGCACACTGGGGCACTA TGATGAGGCCAGTTGAGTGCAATCTGGGACACTATGATGAGGCTAGGTGA GTGGATACTGCGGTACTATGATGAGGGCAGGTGAGTGCACACTGGGACAT TATGATGAGGCTAGGTGATTGCACACTGGGGCACTATAATGAGGCCAGTT CAACGCACACTGGGGCACTATGTTGAGGCTAGGTGAGTGCACACTGGGAA ACTATGATAAGGCTAGATGAGTGTACACTGGGGCACTATGATGAGGCTAG CTCAGCGCACACGG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TNFRSF10D_chr8_23130588_23169027	23139071	T T	TAAAACCC others(435): Show TAAAACCCCTAAGATGAAACTACAATATTGAAATAGAAATGTATGTCTGG AGGAATGTTAAAAACATAGCAAATGCAATAAATTAGCAAACAGAATTACA AGGTTATCCAACTCATAATGGATACAAAATAGGCCGGGCGTGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19030.hp2 HG02572.hp1 NA19030.hp2	a0012 a0012	a0012c0009 a0012c0009	a0012c0009t0015 a0012c0009t0015	a0012c0009t0015g0137 a0012c0009t0015g0138 a0012c0009t0015g0137 a0012c0009t0015g0138	2	444	0.0045	442	c.955 others(457): Show c.955-812_955-811insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCACGCCCGGCCTATTTTGTATCCATTATG AGTTGGATAACCTTGTAATTCTGTTTGCTAATTTATTGCATTTGCTATGT TTTTAACATTCCTCCAGACATACATTTCTATTTCAATATTGTAGTTTCAT CTTAGGGGTTTT	TNFRSF10D	ENSG00000173530.6	transcript	ENST00000312584.4	protein_coding	7/8			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507507	G G	GTATTATA others(435): Show GTATTATACATACGTAAATGTATATATGTATATATACATTATACATACGT AAATGTATATATGTATATATACATTATACATACGTAAATGTATATATGTA TATATACATTATACATACGTAAATGTATAATGTATATATACATTATACAT ACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATG TATATATACATTATACATACGTAAATGTATAATGTATATATACATTATAC ATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGTATGT ATATATACATTATACATACGTAAATGTATTATACATAAATGTATATATGT ATATATACATGTATTATACATACATAAATGTATATATGTATATATACATG TATTATACATACATAAATGTATATATACATGTATGCACGTATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	388	0.0026	442	c.-23 others(459): Show c.-23+2540_-23+2541insTATACGTGCATACATGTATATATACATT TATGTATGTATAATACATGTATATATACATATATACATTTATGTATGTAT AATACATGTATATATACATATATACATTTATGTATAATACATTTACGTAT GTATAATGTATATATACATACATTTACGTATGTATAATGTATATATACAT TATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATG TATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATAC ATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTA TGTATAATGTATATATACATATATACATTTACGTATGTATAATGTATATA TACATATATACATTTACGTATGTATAATGTATATATACATATATACATTT ACGTATGTATAATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507519	A A	ATATACAT others(435): Show ATATACATGTATATATACATGTATATATGTATATATACGTGTATCTACAT GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATAT ACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTAT ATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGT ATATACGTATACATGTGTACACATGTATGTATGTGTATATATG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0028 a0001c0001t0010 a0001c0001t0028	a0001c0001t0010g0270 a0001c0001t0028g0259 a0001c0001t0010g0270 a0001c0001t0028g0259	2	388	0.0052	442	c.-23 others(459): Show c.-23+2528_-23+2529insCATATATACACATACATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACACATGTATACGTATATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTAGATACACGTATATATACATATATACATGTA TATATACATGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPM7_chr15_50552158_50691797	50564248	A A	AAAAATAA others(435): Show AAAAATAAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0001 a0001c0001t0037g0001	1	352	0.0028	442	c.546 others(461): Show c.5468-2441_5468-2440insATTTTATTTTATTTTATTTTATTTTA TTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTT ATTTTATTTTTATTTT	TRPM7	ENSG00000092439.16	transcript	ENST00000646667.1	protein_coding	38/38			chr15	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(435): Show CCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGT AAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCCGTCATACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCAT CATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACA CACACTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCCCACACACAC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	224	0.0045	442	c.225 others(461): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGG GGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCT TTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGA GTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTAT GTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG GTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(435): Show CCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGT AAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGAC CCCCGTCATACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCCAT CATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCACACATACCCTCGTAAAGACCCCATCACACCATCCTG AAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGAC CCCACACACACTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCCCAC ACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACATACCC TCGTAAAGACCCCATCACACCATCCTGAAGACCCCCACACACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0047 a0003c0003t0001g0047	1	224	0.0045	442	c.225 others(461): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGGGTATGTGGGGGTCTTCAGGACGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTCT TTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGTCTTTACGA GTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTAT GTGTGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG GTCTTTAGGATGGTATGATGGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGATGGTATGACGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTG ATGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTN_chr2_178520989_178812423	178757157	A A	ACAGTAAG others(435): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAA GTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTA CTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0052 a0052	a0052c0057 a0052c0057	a0052c0057t0001 a0052c0057t0001	a0052c0057t0001g0147 a0052c0057t0001g0147	1	242	0.0041	442	c.106 others(461): Show c.10679-361_10679-360insCACTTAAAGTAAGTACAGTATTACTT ACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTAC AGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAAGT AAGTACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTAC TTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757157	A A	ACAGTAAG others(435): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAATACTGTACTTACTTTAAGTGCAGTAATACTGTACTTACTTTAA GTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTA CTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0041 a0041	a0041c0042 a0041c0042	a0041c0042t0003 a0041c0042t0003	a0041c0042t0003g0214 a0041c0042t0003g0214	1	370	0.0027	442	c.103 others(463): Show c.10303+1826_10303+1827insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTGCACTTAAA GTAAGTACAGTATTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCA CTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATT ACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAA GTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTA CTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATT ACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAA GTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870569	C C	CCCACACA others(435): Show CCCACACACCACCACACCCCATACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACCCCCACACACCACACACCC CACACACACCACACCCCACACACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACCC ACACACACCACACCCCACACACAAAACCACACCCCACACACACACCACAC ACCCCACACAGCACCACACCCCACACACACCACACCCCACACACACCACA CCCCACCACACACACCACACACCCCACACACACCACACCCCACACACACC ACACACCCCACACACACCACACCCCACACACACCACACCCCAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	338	0.0030	442	c.35 others(461): Show c.35+21836_*35+21837insCCACACACCACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCCACACACCACACACCCCACACACACCACACCCCACACACACCA CACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACCCACACACACCACACCCCACACACAAAAC CACACCCCACACACACACCACACACCCCACACAGCACCACACCCCACACA CACCACACCCCACACACACCACACCCCACCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAC ACACACCACACCCCAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870803	A A	ACACACAC others(435): Show ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACAAACCACACACCCCACACA CACCACACACACCACACACCCCACACACACCACACCCCATACACACCACA CCCCACACACACCACACACCCCACACACACCACACACACACATCACATAC CACACACACATCACATACCACACACAAACCACACACCCCACACACACCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACAC ACACCACACCCCACACACACCACACCCCATACACACCACACCCCACACAC ACCACACACCCCACACACACCACACCCCACACACACCACACCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	338	0.0030	442	c.35 others(461): Show c.35+22070_*35+22071insCACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACACCCCACACACACC ACACAAACCACACACCCCACACACACCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACACACACATCACATACCACACACACATCACATACCACACACAA ACCACACACCCCACACACACCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCATACACACCACACCCCACACACACCACACCCCACACACACCACACCC CATACACACCACACCCCACACACACCACACACCCCACACACACCACACCC CACACACACCACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UCN3_chr10_5359966_5379692	5370131	A A	ATATGTGT others(435): Show ATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTAT GTGTGTGTATGTGTGTGTATATGCGTCTGTATATGCGTGTGTATATGCGT GTGTATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTAT ATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGTGTGT ATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTAT ATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGC GTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGT GTATATGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0095 a0002c0002t0003g0095	1	468	0.0021	442	c.-6- others(457): Show c.-6-3583_-6-3582insATGTGTGTGTATATGTGTGTGTATATGTGT GTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTCTGTAT ATGCGTGTGTATATGCGTGTGTATGTGTGTGTATATATGTGTGTATATAT GTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGT GTGTATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGT GTGTGTATATGCGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGT GTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATGTGTGTGT ATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTAT GTGCGTGTGTATGTGTGTGTATATGTGTGTATATGTGTGTGTGTATATGC GTGTGTATGCGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK4_chr3_41241599_41967103	41890887	G G	GGAAGGGA others(435): Show GGAAGGGACAGGAGGGGGAAGGAAGGGACAGGAGGGGGAAGGAAGGGACA GGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACAGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGAAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAGGAAGGGACG GGAGGGGGAAAGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAA AGAAGGGACGGGAGGGGGAAAGAAGGGACGGGAGGGGGAAAGAAGGGACG GGAGGGGGGAAGGAAGGGACGGGAGGGGGAAGGAAGGGACGGGAGCGGGG AAGGAAGGGACAGGAGGGGGAAAGAAGGGACGGGAGGGGGAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	72	0.0139	442	c.157 others(461): Show c.1577+4630_1577+4631insTTTCCCCCTCCCGTCCCTTCTTTCCC CCTCCTGTCCCTTCCTTCCCCGCTCCCGTCCCTTCCTTCCCCCTCCCGTC CCTTCCTTCCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTC CCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCTGT CCCTTCTTTCCCCCTCCCGTCCCTTCCTTCCCCCTCCCGTCCCTTCTTTC CCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCTGT CCCTTCCTTCCCCCTCCCGTCCCTTCTTTCCCCCTCCCGTCCCTTCTTTC CCCCTCCCGTCCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCCGT CCCTTCTTTCCCCCTCCTGTCCCTTCCTTCCCCCTCCTGTCCCTTCCTTC CCCCTCCTGTCCCTTC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	16/36			chr3	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(435): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATATTATATTTATGTAATATATAATATATATTTATA TATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTA ATATATAATATATATTTATATATTATATTTATGTAATATATAATATATAT TTATATATTATATTTATGTAATATATAATATATATTTATATTATATTTAT GTAATATATAATATATATTATATATTATATTTATGTAATATATAATATAT ATTTATATATTATATTTATGTAATATATAATATATATTTATATATTATAT TTATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAA TATATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0014 a0001c0010t0014	a0001c0010t0014g0040 a0001c0010t0014g0040	1	204	0.0049	442	c.213 others(461): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA TATATATTATATATTACATAAATATAATATAAATATATATTATATATTAC ATAAATATAATATATAAATATATATTATATATTACATAAATATAATATAT AAATATATATTATATATTACATAAATATAATATATAAATATATATTATAT ATTACATAAATATAATATATAAATATATATTATATATTACATAAATATAA TATATATATATTATATATTACATAAATATAATATATATATTATATATTAC ATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35509498	T T	TCTCCTCT others(435): Show TCTCCTCTCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCTTCCCCT CTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCCCC TCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCCTCTCCT CTCCCCTCCCCTCTCCTCCCCGCTTCCCTCCCCTTGCCTCTCCCCTCCCT TCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTCCTTCCCCTCCTATTC CTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCCCTTTCTCTCCCATTC CTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	64	0.0156	442	c.104 others(461): Show c.104-39786_104-39785insCTCTCCCCTCCCTTCCCCTCTCCCCT CCCCTCCCTTCCCCTCTCCCCTCCCCTGCCTTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCTCCCCT CCCCTCCCCTCTCCTCTCCCCTCCCCTCTCCTCCCCGCTTCCCTCCCCTT GCCTCTCCCCTCCCTTCCCCTCTCCCCTCCCCTCCCCTCCCTTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTGTCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCTCTCCTTCCCTCCCCTCCCCTCCCATTC CTTCCCCTCCTATTCCTTCCCCTCCCTTTCCCTCCCATTCCTTCCCCTCC CTTTCTCTCCCATTCCTTCCCCTCCCTTTCCCCTACCCCTCCCCTGTCTT CTCCTCCCCTCCTCTC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
VCX2_chrX_8164944_8176267	8169195	C C	CCACCTCT others(435): Show CCACCTCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCTCCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTC CCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCGCCTCTTCCTC CCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CTCACACACCACCGCTTCCTCCCTCCCTCCCTCCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	115	0.0087	442	c.83 others(451): Show c.836_*837insTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGT GTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGCGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGA GAGGTG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		748		chrX	TogoVar
VCX_chrX_7838171_7849143	7844337	A A	AGGGAGGG others(435): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0026 a0026	a0026c0026 a0026c0026	a0026c0026t0002 a0026c0026t0002	a0026c0026t0002g0004 a0026c0026t0002g0004	1	341	0.0029	442	c.32 others(451): Show c.321_*322insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		195		chrX	TogoVar
YBEY_chr21_46281342_46302751	46292556	G G	GCAAGTTA others(435): Show GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCA AGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCC GGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCC CGCGGTTAGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAG TTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGG ACTGAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTT GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0245 a0001c0001t0003g0245	1	404	0.0025	442	c.339 others(459): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCA GTGGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTGAGTGGGGACAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTGAGT GGGGACAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(435): Show AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGGGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGT TAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAG CCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGG GGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG02280.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0015 a0001c0001t0001g0016	2	404	0.0050	442	c.339 others(459): Show c.339+1159_339+1160insTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGC AAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCC GGGACTCAGTGGGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(435): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTACCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	404	0.0025	442	c.339 others(459): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTACCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292564	A A	AACTCTAG others(435): Show AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCC TGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp2 HG02572.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	404	0.0050	442	c.339 others(459): Show c.339+1122_339+1123insTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGTGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGGGACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293063	G G	GAGTCAGC others(435): Show GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	404	0.0025	442	c.339 others(459): Show c.339+1601_339+1602insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293362	T T	TCAGCCAC others(435): Show TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACA GCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	404	0.0025	442	c.339 others(459): Show c.339+1907_339+1908insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTT AAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGAC TCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCG GTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAA ACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGGGACAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293655	G G	GAGTCAGC others(435): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTCGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT CAGCCACACAAGTTAAACTCTAGATTAAATTTCTCCCGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	404	0.0025	442	c.339 others(459): Show c.339+2193_339+2194insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTCGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAA TTTCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293732	T T	TCAGCCAC others(435): Show TCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCA GCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGC CACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	404	0.0025	442	c.339 others(459): Show c.339+2285_339+2286insAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGG GACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293803	G G	GAGTCAGC others(435): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAAT CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03579.hp1 HG02976.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0003g0208 a0001c0001t0003g0227	2	404	0.0050	442	c.339 others(459): Show c.339+2341_339+2342insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGAC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGAATCAGCCACACAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293803	G G	GAGTCAGC others(435): Show GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA ATCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGT CAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATT AAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0384 a0001c0001t0001g0384	1	404	0.0025	442	c.339 others(459): Show c.339+2341_339+2342insAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTC AGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAATCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGAAGTGAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46294620	A A	ACAGCCAC others(435): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	404	0.0025	442	c.340 others(459): Show c.340-1535_340-1534insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACGCAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ZC3H12B_chrX_65029826_65512887	65450478	T T	TATATATG others(435): Show TATATATGTATATATGTACATATGTATATATATGTATATATGTACATATG TATATATATGTATATATGTACATATGTATATATATGTATATATGTATATA TACATATGTATATATATGTACATATGTATATATATACATGTATACATATG TATACATGTATATATATACATATGTATACATGTATATATGTATATATATA CATGTATACATATGTATATATGTATACATATGTATATATGTATATATGTA TAAATATACATATGTATATATATGTATATATGTATACATATGTATATATA CATATGTATATATATGTATATATGTATACATATGTATATATACATATGTA TATATATGTATACATATGCATATATACATATGTATATATATGTATATATG TATACATATGTATATATGCATATATATACATATGTATATATGC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	165	0.0061	442	c.-15 others(463): Show c.-156-38164_-156-38163insATGTATATATGTACATATGTATAT ATATGTATATATGTACATATGTATATATATGTATATATGTACATATGTAT ATATATGTATATATGTATATATACATATGTATATATATGTACATATGTAT ATATATACATGTATACATATGTATACATGTATATATATACATATGTATAC ATGTATATATGTATATATATACATGTATACATATGTATATATGTATACAT ATGTATATATGTATATATGTATAAATATACATATGTATATATATGTATAT ATGTATACATATGTATATATACATATGTATATATATGTATATATGTATAC ATATGTATATATACATATGTATATATATGTATACATATGCATATATACAT ATGTATATATATGTATATATGTATACATATGTATATATGCATATATATAC ATATGTATATATGCATAT	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370800	C C	CATCATAT others(435): Show CATCATATATGATATATACATCATATATCACACATATGATATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATACATCA TATATCACACATATGATATACATCATATATCACACATATGATATATATCA TATATCACACATATGATATATATCATATATCACACATATGATATATATCA TACATATCACATATATCATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATGATATATATCATACATATCACATATATGAT ATATATCATATATATCACATATATGATATATATATCATATATATCACATA TATGATATATATATATCATATATATCACATATATGATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	350	0.0029	442	c.-36 others(453): Show c.-3672_-3671insATCATATATGATATATACATCATATATCACACAT ATGATATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATACATCATATATCACACATATGATATACATCATATATCACAC ATATGATATATATCATATATCACACATATGATATATATCATATATCACAC ATATGATATATATCATACATATCACATATATCATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATGATATATATCATACA TATCACATATATGATATATATCATATATATCACATATATGATATATATAT CATATATATCACATATATGATATATATATATCATATATATCACATATATG ATATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3568		chr10	TogoVar
ZNF543_chr19_57315472_57335770	57319209	T T	TATACATA others(435): Show TATACATACATATACAGTACAGTTACTTACTAGTAATACATACATATATA TACATACATTTATACATATTCTATATAGTAGTACGATATACTAGTACATA TACATACAGTGATTTTACATACATATACATACATATACATATACATACAT ATACTAACTATACATACATATACATATATATATATATATAGATAGTATAT ATATACATAATATATACATATATATACATATATACATATACATACATATA TACATATATATACATATATACATATACATACATATATATACATATACATA CATATATACATATATATACATATACATACATATATATACATATATATACA TATACATACATATATATATATATATACATATACATACATATATACATATA TATACATATACATACATATATACATATATATACATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0010 a0007c0007t0010	a0007c0007t0010g0016 a0007c0007t0010g0016	1	460	0.0022	442	c.-16 others(453): Show c.-1645_-1644insATACATACATATACAGTACAGTTACTTACTAGTA ATACATACATATATATACATACATTTATACATATTCTATATAGTAGTACG ATATACTAGTACATATACATACAGTGATTTTACATACATATACATACATA TACATATACATACATATACTAACTATACATACATATACATATATATATAT ATATAGATAGTATATATATACATAATATATACATATATATACATATATAC ATATACATACATATATACATATATATACATATATACATATACATACATAT ATATACATATACATACATATATACATATATATACATATACATACATATAT ATACATATATATACATATACATACATATATATATATATATACATATACAT ACATATATACATATATATACATATACATACATATATACATATATATACAT ATACATAC	ZNF543	ENSG00000178229.8	transcript	ENST00000321545.5	protein_coding		1262		chr19	TogoVar
AHRR_chr5_316714_443285	391438	C C	CGGGGCGC others(436): Show CGGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGG AGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGA GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCG GGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCG GGCGCAGGGTGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGG GCGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGG CGCAGGGCGAGGCAGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCGGGC GCAGGGCGAGGCAGGGCCAGAGCGTGCACGGACACAGGGCGAGGAGGGCG CAGGGTGAGGCAGGGCCAGAGCGTGCATGGGCGCAGGGCGAGGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	268	0.0037	443	c.351 others(462): Show c.351+14725_351+14726insGCGCAGGGCGAGGCAGGGCCAGAGCG TGCACGGACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGT GCATGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGGGGCAGGGCGAGGCGGGGCGCAGGGCGAGGCAGGGCCAGAGCGTG CACGGGGGCAGGGCGAGGCGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGC ACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCA CGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCAC GGGCGCAGGGCGAGGCGGGCGCAGGGCGAGGCAGGGCCAGAGCGTGCACG GACACAGGGCGAGGAGGGCGCAGGGTGAGGCAGGGCCAGAGCGTGCATGG GCGCAGGGCGAGGAGGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	424182	G G	GGTGCTGA others(436): Show GGTGCTGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGT GTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGA TGGTGTGGGGGCTTTAACCCACGTGTCTCTGGTGGGTGGGAGAGGGCTGG GCATGAGCTCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGT CTCTGGTGGGGGGGCGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGATG GTGTGAGGGTGTTAACCCATGTGTCTCTGGTGGGTGGGAGAGGGCCGGTG CTGAGCTCTGTGCACCCTGTGATGGTGTGGGGGCTTTAACCCAGGTGTCT CTGGTGGGTGGGAGAGGGCTGGGCATGAGCTCTGTGCACCCTGTGATGGT GTGAGGGTGTTAACCCATGTGTCTCTGGTGGGGGGGCGAGGGCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03927.hp2 HG01361.hp2 HG03927.hp2	a0001 a0005 a0001 a0005	a0001c0017 a0005c0005 a0001c0017 a0005c0005	a0001c0017t0016 a0005c0005t0015 a0001c0017t0016 a0005c0005t0015	a0001c0017t0016g0176 a0005c0005t0015g0147 a0001c0017t0016g0176 a0005c0005t0015g0147	2	268	0.0075	443	c.708 others(458): Show c.708+206_708+207insTGCTGAGCTCTGTGCACCCTGTGATGGTGT GAGGGTGTTAACCCATGTGTCTCTGGTGGGTGGGAGAGGGCCGGTGCTGA GCTCTGTGCACCCTGTGATGGTGTGGGGGCTTTAACCCACGTGTCTCTGG TGGGTGGGAGAGGGCTGGGCATGAGCTCTGTGCACCCTGTGATGGTGTGA GGGTGTTAACCCATGTGTCTCTGGTGGGGGGGCGAGGGCCGGTGCTGAGC TCTGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGTCTCTGGTG GGTGGGAGAGGGCCGGTGCTGAGCTCTGTGCACCCTGTGATGGTGTGGGG GCTTTAACCCAGGTGTCTCTGGTGGGTGGGAGAGGGCTGGGCATGAGCTC TGTGCACCCTGTGATGGTGTGAGGGTGTTAACCCATGTGTCTCTGGTGGG GGGGCGAGGGCCG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(436): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GAAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGCGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAAGGGAG GGGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAG GCGAGGGGAGGGGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0131 a0001c0011t0002g0131	1	350	0.0029	443	c.248 others(458): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCCTCCCTTCCCATCCTCCCCTCCCCCTCCCCTCCCAC CCTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACGCCCCCTCCCCT CACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCC TCCCCTCCCCCTTCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCC CCTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTC CCCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCC TCCCCTCCCACCCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCAC CTCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar

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